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Article

A novel homozygous SCN5A variant detected in sick sinus syndrome.

Pacing and clinical electrophysiology : PACE - 1 Feb 2021

Alkorashy Maarab, Al-Ghamdi Bandar, Tulbah Sahar, Al-Numair Nouf S, Alhadeq Faten, A Takroni Saud, Al-Hassnan Zuhair N

Abstract excerpt

Sick sinus syndrome (SSS) is a group of disorders characterized by an abnormal cardiac impulse formation or propagation from the sinoatrial node. Mutated SCN5A has been reported in SSS, however, homozygosity of SCN5A is exceedingly rare. Here, we report a consanguineous family with four affected children with SSS. Symptomatic bradycardia necessitated implanting a pacemaker in all of them. Sequencing SCN5A...

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Identifiers

PMID: 32965045
DOI: 10.1111/pace.14077

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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